Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA224952

Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8852

ClinVar RCV Id: RCV000009400 RCV000009401 RCV000084261 RCV000172588 RCV001642203 RCV003934816

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Ser130Leu	CA224951 NM_000447.3:c.389C>T